Von Hippel-Lindau disease is a genetic disorder in which tumors form in the body. It is diagnosed through genetic testing as well as imaging. Von Hippel-Lindau (VHL) disease is a rare genetic condition in which tumors, both non-cancerous (benign) and cancerous, form in certain areas of the body due to a mutation in the VHL gene. The VHL gene is a tumor suppressor gene. When it doesn’t
Von Hippel-Lindau (VHL) disease is a rare genetic condition in which tumors, both non-cancerous (benign) and cancerous, form in certain areas of the body due to a mutation in the VHL gene. The VHL gene is a tumor suppressor gene. When it doesn’t work properly, tumor cells can grow out of control.
This article will review how VHL is diagnosed through a physical exam, laboratory testing, and imaging.
There aren’t currently any at-home testing kits to diagnose VHL. It is most often diagnosed after someone is discovered to have the tumors likely associated with VHL.
An evaluation that can be completed at home is a thorough and accurate family history. Although about 20% of VHL happens spontaneously, 80% of VHL is passed down in a family. A child born to a parent with VHL has a 50% chance of inheriting the VHL mutation. A healthcare provider should be notified if there is a family history of VHL.
If VHL is suspected or being evaluated, a physical exam by a healthcare provider can be an important step in diagnosis. VHL most often causes benign tumors called hemangioblastomas. Although they aren’t cancerous, they may cause other problems or side effects. Some of these that a healthcare provider may be looking for during an exam may include:
VHL is ultimately diagnosed through genetic testing. This is not done to screen the general population, but is used when a diagnosis of VHL is suspected. The following are some findings that may suggest the presence of VHL:
This genetic testing may also be done when someone has a family history of VHL, and may be done as early as infancy for a child born to a parent with VHL.
Molecular genetic testing is used to look for the presence of a mutation in the VHL gene. Single gene tests may be used, or a larger molecular panel may be ordered, which also looks for mutations in other genes. These are done through blood testing. Results may take a few weeks to return.
Although the diagnosis of VHL is made through genetic testing, there are findings on imaging tests that may cause healthcare providers to be suspicious of a diagnosis of VHL. Imaging may include either computerized tomography (CT) or magnetic resonance imaging (MRI) of multiple areas to look for the following:
People who have a single hemangioblastoma, renal cell carcinoma, or pheochromocytoma may not necessarily have VHL. These are conditions that can occur without a mutation in the VHL gene.
There are other genetic conditions that can cause multiple tumors to form. You may be evaluated for these if VHL is suspected. These other genetic conditions include:
The diagnosis of VHL is ultimately made through genetic testing, which finds the mutation in the VHL gene. This testing may be prompted by the finding of suspicious tumors or cysts on imaging studies. The imaging studies are done to evaluate the symptoms these tumors may cause.
Although many of the findings on physical exam or imaging may be caused by conditions other than VHL, it is certainly a consideration when someone has a family history of VHL, if they have retinal hemangioblastomas or multiple findings on imaging that suggest VHL.
Knowing your family history can be important for many reasons, but especially important if you have a family history of VHL.
If you have VHL, keeping up with your appointments with healthcare providers for imaging and screenings is important. These can find any tumors or cysts early and keep you as healthy as possible. Talk to your healthcare team about any new symptoms that develop or any questions that you have about VHL.How Von Hippel-Lindau Is Diagnosed View Story